Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro ‐oculo‐facio‐skeletal syndrome

ConclusionThe co ‐occurrence of clinical and overlapping genetic heterogeneous entities should be taken into consideration for better molecular and genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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AbstractGenome editing of hematopoietic stem cells (HSCs) represents a therapeutic option for a number of hematological genetic diseases, as HSCs have the potential for self ‐renewal potential and differentiation into all blood cell lineages. This review presents advances of genome editing in HSCs utilizing adenovirus vectors as delivery vehicles. We focus on capsid‐modified, helper‐dependent adenovirus vectors that are devoid of all viral genes and therefore exhi bit an improved safety profile. We discuss HSC genome engineering for several inherited disorders and infectious diseases including hemoglobinopathies, Fan...
Source: FEBS Letters - Category: Biochemistry Authors: Tags: REVIEW Source Type: research
Nature, Published online: 30 October 2019; doi:10.1038/s41586-019-1703-4The structure of the multiprotein Fanconi anaemia core complex, determined using cryo-electron microscopy and mass spectrometry, shows that the complex adopts an extended asymmetric structure and highlights the structural and functional asymmetry of the RING finger domains.
Source: Nature AOP - Category: Research Authors: Source Type: research
Conclusion: JP4-039 protected Fanca–/– and Fanca+/+ cells and mouse oral cavity from both proton and photon radiation.
Source: In Vivo - Category: Research Authors: Tags: Experimental Studies Source Type: research
Defects in the Fanconi anemia (FA) DNA damage–response pathway result in genomic instability, developmental defects, hematopoietic failure, cancer predisposition, and metabolic disorders. The endogenous sources of damage contributing to FA phenotypes and the links between FA and metabolic disease remain poorly understood. Here, using mice lacking the Fancd2 gene, encoding a central FA pathway component, we investigated whether the FA pathway protects against metabolic challenges. Fancd2−/− and wildtype (WT) mice were fed a standard diet (SD), a diet enriched in fat, cholesterol, and cholic acid (Paigen di...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
Prognostic refinement in Fanconi anemia (FA) is needed, especially when considering allogeneic hematopoietic stem cell transplantation (HCT). We studied 20 children with FA and bone marrow failure from a single center. According to Hôpital Saint-Louis risk classification for FA, patients were classified in stage A (no or mild cytopenia/dysplasia), B (single non–high-risk cytogenetic abnormality), C (severe cytopenia and/or significant dysplasia and/or high-risk cytogenetic abnormality), and D (myelodysplastic syndrome with excess of blasts/acute myeloid leukemia) in 4, 2, 13, and 0 cases, respectively. Nine pat...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Original Articles Source Type: research
Tumor-treating fields (TTFields) is a non-invasive physical modality of cancer therapy that applies low-intensity, intermediate frequency, alternating electric fields to a tumor. Interference with mitosis was the first mechanism describing the effects of TTFields on cancer cells, however, TTFields was shown to not only reduce the rejoining of radiation-induced DNA double-strand breaks (DSBs), but to also induce DNA DSBs. The mechanism(s) by which TTFields generates DNA DSBs is related to the generation of replication stress including reduced expression of the DNA replication complex genes MCM6 and MCM10 and the Fanconi's Anemia pathway genes.
Source: Translational Research - Category: Research Authors: Source Type: research
Publication date: Available online 19 October 2019Source: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseAuthor(s): Brittany Haynes, Ambikai Gajan, Pratima Nangia-Makker, Malathy P. ShekharAbstractTriple negative breast cancer (TNBC) is an aggressive breast cancer subtype with few therapy options besides chemotherapy. Although platinum-based drugs have shown initial activity in BRCA1-mutated TNBCs, chemoresistance remains a challenge. Here we show that RAD6B (UBE2B), a principal mediator of translesion synthesis (TLS), is overexpressed in BRCA1 wild-type and mutant TNBCs, and RAD6B overexpression correlate...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
Publication date: Available online 15 October 2019Source: Urology Case ReportsAuthor(s): Kevin Pineault, Ridwan Alam, Alexa Meyer, Michael H. JohnsonAbstractProstatic utricles are rare in the general population and are often otherwise unremarkable anatomic variants. These structures are contiguous with the prostatic urethra and are nevertheless susceptible to urothelial carcinoma. This case report discusses the first reported patient with Fanconi anemia with urothelial carcinoma within an enlarged prostatic utricle.
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
by Edwige B. Garcin, St éphanie Gon, Meghan R. Sullivan, Gregory J. Brunette, Anne De Cian, Jean-Paul Concordet, Carine Giovannangeli, Wilhelm G. Dirks, Sonja Eberth, Kara A. Bernstein, Rohit Prakash, Maria Jasin, Mauro Modesti Deficiency in several of the classical human RAD51 paralogs [RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3] is associated with cancer predisposition and Fanconi anemia. To investigate their functions, isogenic disruption mutants for each were generated in non-transformed MCF10A mammary epithelial cells and in transformed U2OS and HEK293 cells. In U2OS and HEK293 cells, viable ablated clones were r...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
In this study, we show that CASIN, a selective inhibitor of cell division cycle 42 (Cdc42) GTPase, inhibited proliferation and survival of melphalan/bortezomib-resistant MM cells more profoundly than that of the sensitive cells. Furthermore, CASIN was more potent than melphalan/bortezomib in inhibiting melphalan/bortezomib-resistant cells. In addition, CASIN sensitized melphalan/bortezomib-resistant cells to this drug combination. Mechanistically, Cdc42 activity was higher in melphalan/bortezomib-resistant cells than that in the sensitive cells. CASIN inhibited mono-ubiquitination of Fanconi anemia (FA) complementation gro...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
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